SLC4A1 (solute carrier family 4 member 1 (Diego blood group))

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Gene: SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) Homo sapiens

Analyze

Symbol:

SLC4A1

Name:

solute carrier family 4 member 1 (Diego blood group)

RGD ID:

737027

HGNC Page

HGNC:11027

Description:

Enables several functions, including ankyrin binding activity; bicarbonate transmembrane transporter activity; and protein homodimerization activity. Involved in bicarbonate transport and chloride transmembrane transport. Located in basolateral plasma membrane and cortical cytoskeleton. Implicated in congenital hemolytic anemia; hereditary spherocytosis; hereditary spherocytosis type 4; malaria; and renal tubular acidosis. Biomarker of glucosephosphate dehydrogenase deficiency and hereditary elliptocytosis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AE 1; AE1; anion exchange protein 1; anion exchanger 1; anion exchanger-1; band 3 anion exchanger; band 3 anion transport protein; BND3; CD233; CHC; DI; Diego blood group; EMPB3; EPB3; erythrocyte membrane protein band 3; erythroid anion exchange protein; FR; Froese blood group; MGC116750; MGC116753; MGC126619; MGC126623; RTA1A; SAO; solute carrier family 4 (anion exchanger), member 1 (Diego blood group); solute carrier family 4 member 1; solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group); solute carrier family 4, anion exchanger, number 1; solute carrier family 4, member 1; SPH4; SW; Swann blood group; Waldner blood group; WD; WD1; WR; Wright blood group

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	44,248,390 - 44,268,135 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	17	44,248,390 - 44,268,141 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	42,325,758 - 42,345,503 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	39,682,566 - 39,700,993 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	39,682,565 - 39,700,993	NCBI
Celera	17	39,034,465 - 39,054,210 (-)	NCBI		Celera
Cytogenetic Map	17	q21.31	NCBI
HuRef	17	38,089,106 - 38,108,850 (-)	NCBI		HuRef
CHM1_1	17	42,561,259 - 42,581,020 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	45,101,499 - 45,121,240 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

abetalipoproteinemia (IAGP)

ACANTHOCYTOSIS (IAGP)

Alkalosis (ISO)

autoimmune hemolytic anemia (ISO)

Cardiomegaly (ISO)

congenital hemolytic anemia (IAGP,ISO)

Distal Renal Tubular Acidosis (IAGP)

Distal Renal Tubular Acidosis 1 (IAGP)

Distal Renal Tubular Acidosis 3, Autosomal Recessive (IAGP,ISO)

Distal Renal Tubular Acidosis 4 with Hemolytic Anemia (IAGP)

Distal Renal Tubular Acidosis, with Normal Red Cell Morphology (IAGP)

genetic disease (IAGP)

glucosephosphate dehydrogenase deficiency (IEP)

hematopoietic system disease (EXP)

hemolytic anemia (EXP,IAGP)

hereditary elliptocytosis (EXP,IAGP,IEP)

hereditary spherocytosis (EXP,IAGP)

hereditary spherocytosis type 4 (IAGP)

iron deficiency anemia (ISO)

malaria (EXP,IAGP)

Malarial Anemia (IAGP)

metabolic acidosis (ISO)

Ovalocytosis, Malaysian-Melanesian-Filipino Type (IAGP)

Potassium Deficiency (ISO)

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak (IAGP)

renal tubular acidosis (EXP,IAGP,ISO)

thrombocytopenia (ISO)

Vaso-occlusive Crisis (IDA)

Vitamin E Deficiency (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1-naphthyl isothiocyanate (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-butoxyethanol (ISO)

3,3',4,4',5-pentachlorobiphenyl (ISO)

3,3',5,5'-tetrabromobisphenol A (ISO)

4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid (EXP)

4,4'-dinitrostilbene-2,2'-disulfonic acid (EXP)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

aconitine (ISO)

aldehydo-D-glucose (EXP)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

aristolochic acid A (EXP)

atorvastatin calcium (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

benzo[e]pyrene (EXP)

Benzo[ghi]perylene (ISO)

Benzo[k]fluoranthene (ISO)

beta-naphthoflavone (ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

C60 fullerene (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

cholesterol (ISO)

cisplatin (ISO)

clofibrate (ISO)

copper(II) sulfate (EXP)

D-glucose (EXP)

D-penicillamine (ISO)

dexamethasone (ISO)

dextran sulfate (ISO)

dibenz[a,h]anthracene (ISO)

dibutyl phthalate (ISO)

dichloroacetic acid (ISO)

diclofenac (ISO)

dioxygen (ISO)

dipyridamole (EXP)

folic acid (ISO)

furan (ISO)

furans (EXP)

gentamycin (ISO)

glucose (EXP)

hydrogen peroxide (ISO)

lead diacetate (ISO)

metformin (ISO)

methapyrilene (EXP)

methotrexate (ISO)

methoxychlor (ISO)

methyl isocyanate (ISO)

monosodium L-glutamate (ISO)

N-acetyl-L-cysteine (ISO)

N-ethyl-N-nitrosourea (ISO)

Niflumic acid (EXP)

nitrofen (ISO)

oxaliplatin (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenformin (ISO)

phenobarbital (ISO)

pirinixic acid (EXP)

potassium atom (EXP)

potassium dichromate (ISO)

resveratrol (EXP)

rotenone (ISO)

selenous acid (EXP)

silicon dioxide (EXP)

sodium arsenate (ISO)

sodium arsenite (ISO)

sodium atom (EXP)

sodium hydrogencarbonate (ISO)

sulfates (EXP,ISO)

tebuconazole (EXP)

tert-butyl hydroperoxide (EXP)

testosterone (ISO)

tetrachloromethane (ISO)

titanium dioxide (ISO)

topotecan (ISO)

trichloroethene (ISO)

triphenyl phosphate (ISO)

Triptolide (ISO)

triptonide (ISO)

tungsten (ISO)

valdecoxib (ISO)

valproic acid (EXP)

vancomycin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

bicarbonate transport (IBA,IDA,IEA,ISO,TAS)

blood coagulation (IEA,ISO)

chloride transmembrane transport (IDA,IEA)

chloride transport (IEA,ISS)

circadian rhythm (ISO)

erythrocyte development (IEA,ISO)

inorganic anion transport (IEA)

intracellular monoatomic ion homeostasis (TAS)

monoatomic anion transmembrane transport (IEA)

monoatomic anion transport (IDA,IEA,TAS)

monoatomic ion homeostasis (IBA)

monoatomic ion transport (IEA)

negative regulation of glycolytic process through fructose-6-phosphate (IEA,ISO)

negative regulation of oxidoreductase activity (IEA,ISO)

negative regulation of urine volume (IEA,ISO)

pH elevation (IEA,ISO)

plasma membrane phospholipid scrambling (IEA,ISO)

positive regulation of T cell proliferation (ISO)

protein localization to plasma membrane (IEA,ISO)

regulation of intracellular pH (IBA)

response to acidic pH (ISO)

response to activity (ISO)

response to alkaline pH (ISO)

response to arsenic-containing substance (ISO)

response to carbon dioxide (ISO)

response to hydrogen peroxide (ISO)

response to nutrient levels (ISO)

response to water deprivation (ISO)

transmembrane transport (IBA)

Cellular Component

basolateral plasma membrane (IBA,IDA,IEA,ISO)

blood microparticle (HDA)

cell surface (ISO)

cortical cytoskeleton (IDA,IEA)

cytoplasmic side of plasma membrane (IEA)

extracellular exosome (HDA)

intercalated disc (ISO)

membrane (IEA,NAS)

plasma membrane (IBA,IDA,IEA,ISO,TAS)

Z disc (ISO,ISS)

Molecular Function

actin binding (ISO)

ankyrin binding (IEA,IPI)

bicarbonate transmembrane transporter activity (IBA,IDA,IEA)

chloride transmembrane transporter activity (IEA,ISS)

chloride:bicarbonate antiporter activity (IDA)

enzyme binding (ISO)

hemoglobin binding (IEA)

monoatomic anion transmembrane transporter activity (IEA,TAS)

obsolete anion:anion antiporter activity (IBA,IDA)

protein binding (IPI)

protein homodimerization activity (IPI)

protein-containing complex binding (ISO)

protein-membrane adaptor activity (TAS)

solute:inorganic anion antiporter activity (IDA,IEA,TAS)

transmembrane transporter activity (IBA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abdominal distention (IAGP)

Abdominal pain (IAGP)

Abnormal blood monovalent inorganic cation concentration (IAGP)

Abnormal blood potassium concentration (IAGP)

Abnormal erythrocyte morphology (IAGP)

Abnormality of urine homeostasis (IAGP)

Acanthocytosis (IAGP)

Acidosis (IAGP)

Anorexia (IAGP)

Ataxia (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Chills (IAGP)

Cholelithiasis (IAGP)

Congenital hemolytic anemia (IAGP)

Decreased mean corpuscular volume (IAGP)

Distal renal tubular acidosis (IAGP)

Edema (IAGP)

Elevated circulating creatinine concentration (IAGP)

Elliptocytosis (IAGP)

Episodic fatigue (IAGP)

Extramedullary hematopoiesis (IAGP)

Failure to thrive (IAGP)

Fever (IAGP)

Gout (IAGP)

Growth delay (IAGP)

Hemolytic anemia (IAGP)

Hepatomegaly (IAGP)

Hepatosplenomegaly (IAGP)

Hyperbilirubinemia (IAGP)

Hyperchloremia (IAGP)

Hyperchloremic acidosis (IAGP)

Hyperchloremic metabolic acidosis (IAGP)

Hypercoagulability (IAGP)

Hypocalcemia (IAGP)

Hypofibrinogenemia (IAGP)

Hypokalemia (IAGP)

Impaired urinary acidification (IAGP)

Increased circulating ferritin concentration (IAGP)

Increased circulating lactate dehydrogenase concentration (IAGP)

Increased hemoglobin concentration (IAGP)

Increased mean corpuscular hemoglobin concentration (IAGP)

Increased mean corpuscular volume (IAGP)

Increased RBC distribution width (IAGP)

Increased red cell osmotic fragility (IAGP)

Increased serum lactate (IAGP)

Increased total bilirubin (IAGP)

Intermittent jaundice (IAGP)

Isothenuria (IAGP)

Jaundice (IAGP)

Juvenile onset (IAGP)

Lethargy (IAGP)

Macrocytic anemia (IAGP)

Maculopapular exanthema (IAGP)

Medullary nephrocalcinosis (IAGP)

Muscle weakness (IAGP)

Myalgia (IAGP)

Neonatal hyperbilirubinemia (IAGP)

Nephrocalcinosis (IAGP)

Nephrolithiasis (IAGP)

Nonspherocytic hemolytic anemia (IAGP)

Osteomalacia (IAGP)

Pallor (IAGP)

Pathologic fracture (IAGP)

Polycythemia (IAGP)

Portal vein thrombosis (IAGP)

Pulmonary venous hypertension (IAGP)

Reduced hemoglobin A (IAGP)

Renal tubular acidosis (IAGP)

Restrictive cardiomyopathy (IAGP)

Reticulocytosis (IAGP)

Rickets (IAGP)

Schistocytosis (IAGP)

Short stature (IAGP)

Skin ulcer (IAGP)

Spherocytosis (IAGP)

Splenomegaly (IAGP)

Spontaneous hemolytic crises (IAGP)

Stomatocytosis (IAGP)

Thromboembolism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.	Alloisio N, etal., Blood. 1997 Jul 1;90(1):414-20.
2.	Cardiac hypertrophy in anion exchanger 1-null mutant mice with severe hemolytic anemia.	Alvarez BV, etal., Am J Physiol Heart Circ Physiol. 2007 Mar;292(3):H1301-12. Epub 2006 Oct 20.
3.	Pathogenic autoantibodies in the NZB mouse are specific for erythrocyte band 3 protein.	Barker RN, etal., Eur J Immunol. 1993 Jul;23(7):1723-6.
4.	Regulation of the basolateral chloride/base exchangers AE1 and SLC26A7 in the kidney collecting duct in potassium depletion.	Barone S, etal., Nephrol Dial Transplant. 2007 Dec;22(12):3462-70. Epub 2007 Sep 5.
5.	Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.	Bruce LJ, etal., Nat Genet. 2005 Nov;37(11):1258-63. Epub 2005 Oct 9.
6.	dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.	Fawaz NA, etal., Eur J Haematol. 2012 Apr;88(4):350-5. doi: 10.1111/j.1600-0609.2011.01739.x. Epub 2012 Jan 4.
7.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
8.	Mature erythrocyte membrane homeostasis is compromised by loss of the GATA1-FOG1 interaction.	Hasegawa A, etal., Blood. 2012 Mar 15;119(11):2615-23. doi: 10.1182/blood-2011-09-382473. Epub 2012 Jan 25.
9.	Expression of rat kidney anion exchanger 1 in type A intercalated cells in metabolic acidosis and alkalosis.	Huber S, etal., Am J Physiol. 1999 Dec;277(6 Pt 2):F841-9.
10.	Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).	Jarolim P, etal., J Clin Invest. 1994 Jan;93(1):121-30.
11.	Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.	Jarolim P, etal., Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11022-6.
12.	Oxidation as a possible mechanism of cellular aging: vitamin E deficiency causes premature aging and IgG binding to erythrocytes.	Kay MM, etal., Proc Natl Acad Sci U S A. 1986 Apr;83(8):2463-7.
13.	Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.	Khositseth S, etal., QJM. 2012 Sep;105(9):861-77. doi: 10.1093/qjmed/hcs139.
14.	Abnormalities of ion-exchange proteins of the red cell membrane in iron deficiency anemia.	Li JY, etal., Chin Med J (Engl). 1992 Feb;105(2):116-9.
15.	Band 3 Campinas: a novel splicing mutation in the band 3 gene (AE1) associated with hereditary spherocytosis, hyperactivity of Na+/Li+ countertransport and an abnormal renal bicarbonate handling.	Lima PR, etal., Blood. 1997 Oct 1;90(7):2810-8.
16.	Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.	Maillet P, etal., Br J Haematol. 1995 Dec;91(4):804-10.
17.	The calcineurin inhibitor FK506 (tacrolimus) is associated with transient metabolic acidosis and altered expression of renal acid-base transport proteins.	Mohebbi N, etal., Am J Physiol Renal Physiol. 2009 Aug;297(2):F499-509. doi: 10.1152/ajprenal.90489.2008. Epub 2009 May 13.
18.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
19.	Irreversible AE1 tyrosine phosphorylation leads to membrane vesiculation in G6PD deficient red cells.	Pantaleo A, etal., PLoS One. 2011 Jan 5;6(1):e15847. doi: 10.1371/journal.pone.0015847.
20.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
22.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23.	Monoclonal antibodies recognizing epitopes on the extracellular face and intracellular N-terminus of the human erythrocyte anion transporter (band 3) and their application to the analysis of South East Asian ovalocytes.	Smythe JS, etal., Blood. 1995 May 15;85(10):2929-36.
24.	Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton.	Southgate CD, etal., Nat Genet. 1996 Oct;14(2):227-30.
25.	Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1).	Stehberger PA, etal., J Am Soc Nephrol. 2007 May;18(5):1408-18. Epub 2007 Apr 4.
26.	Natural antiband 3 antibodies in patients with sickle cell disease.	Villaescusa R, etal., C R Biol. 2013 Mar;336(3):173-6. doi: 10.1016/j.crvi.2012.09.002. Epub 2012 Oct 12.
27.	Promoter polymorphism of the anion-exchange protein 1 associated with severe malarial anemia and fatality.	von Kalckreuth V, etal., J Infect Dis. 2006 Oct 1;194(7):949-57. Epub 2006 Aug 30.

Additional References at PubMed

PMID:379653	PMID:695442	PMID:701248	PMID:1352774	PMID:1378323	PMID:1471983	PMID:1520883	PMID:1527044	PMID:1538405	PMID:1639060	PMID:1678289	PMID:1737855
PMID:1824272	PMID:1885574	PMID:1998697	PMID:2065070	PMID:2204832	PMID:2575590	PMID:2594752	PMID:2790053	PMID:2968981	PMID:3179308	PMID:3223947	PMID:3372523
PMID:3478298	PMID:4027230	PMID:6345535	PMID:6449514	PMID:6615451	PMID:7479704	PMID:7506871	PMID:7530501	PMID:7626035	PMID:7774942	PMID:7812009	PMID:7902326
PMID:7919393	PMID:7949112	PMID:8045253	PMID:8168533	PMID:8206915	PMID:8227202	PMID:8343110	PMID:8434259	PMID:8471774	PMID:8508760	PMID:8527430	PMID:8567957
PMID:8578746	PMID:8640229	PMID:8693505	PMID:8704215	PMID:8808627	PMID:8943874	PMID:8960772	PMID:9012689	PMID:9191821	PMID:9233560	PMID:9312167	PMID:9422766
PMID:9454576	PMID:9600966	PMID:9709005	PMID:9709782	PMID:9734643	PMID:9765907	PMID:9774471	PMID:9845551	PMID:9854053	PMID:9973643	PMID:10364201	PMID:10605028
PMID:10820026	PMID:10926824	PMID:10942405	PMID:10942416	PMID:10950304	PMID:11049968	PMID:11063570	PMID:11155072	PMID:11208088	PMID:11208611	PMID:11380459	PMID:11606574
PMID:11756190	PMID:11831035	PMID:11842009	PMID:11844997	PMID:11876646	PMID:11934690	PMID:11994299	PMID:12070037	PMID:12087557	PMID:12101015	PMID:12149479	PMID:12175337
PMID:12227829	PMID:12446737	PMID:12466935	PMID:12477932	PMID:12482865	PMID:12482869	PMID:12531814	PMID:12539048	PMID:12578372	PMID:12813056	PMID:12898519	PMID:12933803
PMID:12938018	PMID:14570914	PMID:14604989	PMID:14640982	PMID:14654610	PMID:14695625	PMID:14734552	PMID:14736961	PMID:14769040	PMID:15039022	PMID:15067510	PMID:15087282
PMID:15121092	PMID:15182940	PMID:15211439	PMID:15252044	PMID:15310273	PMID:15478802	PMID:15489334	PMID:15500919	PMID:15653731	PMID:15811326	PMID:15813913	PMID:15847654
PMID:15907563	PMID:16013436	PMID:16107207	PMID:16118313	PMID:16229454	PMID:16252102	PMID:16392641	PMID:16411779	PMID:16420521	PMID:16669616	PMID:16700540	PMID:16718373
PMID:16762928	PMID:16849697	PMID:16914912	PMID:17027918	PMID:17128827	PMID:17137217	PMID:17205967	PMID:17317744	PMID:17361021	PMID:17408468	PMID:17453414	PMID:17533027
PMID:17553790	PMID:17554061	PMID:17652430	PMID:17854772	PMID:17941824	PMID:17971901	PMID:18160114	PMID:18266205	PMID:18358003	PMID:18524859	PMID:18714043	PMID:18778682
PMID:18945214	PMID:18979639	PMID:19029645	PMID:19056867	PMID:19071041	PMID:19229254	PMID:19238475	PMID:19289107	PMID:19294450	PMID:19330352	PMID:19438409	PMID:19460752
PMID:19564639	PMID:19625994	PMID:19722686	PMID:19846781	PMID:19907019	PMID:19913121	PMID:20005958	PMID:20007969	PMID:20015879	PMID:20035734	PMID:20062076	PMID:20068363
PMID:20100494	PMID:20132789	PMID:20151848	PMID:20346715	PMID:20424473	PMID:20561513	PMID:20576809	PMID:20628050	PMID:20628086	PMID:20691413	PMID:20799361	PMID:20825599
PMID:20828148	PMID:20833140	PMID:20932077	PMID:20960171	PMID:20980406	PMID:21039340	PMID:21209359	PMID:21257764	PMID:21300752	PMID:21455273	PMID:21493712	PMID:21527529
PMID:21543742	PMID:21649639	PMID:21695904	PMID:21761435	PMID:21871436	PMID:21873635	PMID:22016805	PMID:22155194	PMID:22170767	PMID:22214711	PMID:22426110	PMID:22516433
PMID:22518001	PMID:22580993	PMID:22609520	PMID:22861190	PMID:23013433	PMID:23219802	PMID:23251661	PMID:23255290	PMID:23460825	PMID:23583773	PMID:23842529	PMID:23846695
PMID:23878048	PMID:24121512	PMID:24252324	PMID:24758720	PMID:24920676	PMID:24964668	PMID:25012180	PMID:25257781	PMID:25344524	PMID:25388786	PMID:25616663	PMID:25628009
PMID:25957428	PMID:26047685	PMID:26049106	PMID:26542571	PMID:26823170	PMID:26859120	PMID:26984737	PMID:27034738	PMID:27058983	PMID:27545606	PMID:27580023	PMID:27601653
PMID:27718309	PMID:27742708	PMID:27767102	PMID:27984639	PMID:27989623	PMID:28042499	PMID:28045035	PMID:28068080	PMID:28160546	PMID:28216155	PMID:28233610	PMID:28387307
PMID:28407820	PMID:28494002	PMID:28596233	PMID:29240292	PMID:29483102	PMID:29573245	PMID:29627839	PMID:29884876	PMID:30011272	PMID:30256676	PMID:30545833	PMID:30816203
PMID:31536960	PMID:31540709	PMID:31556319	PMID:31600044	PMID:31753913	PMID:31933135	PMID:32119860	PMID:32133777	PMID:32296183	PMID:32789883	PMID:32936915	PMID:33068675
PMID:33620149	PMID:34112901	PMID:34157794	PMID:34943876	PMID:36320073

Genomics

Comparative Map Data

SLC4A1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	44,248,390 - 44,268,135 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	17	44,248,390 - 44,268,141 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	42,325,758 - 42,345,503 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	39,682,566 - 39,700,993 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	39,682,565 - 39,700,993	NCBI
Celera	17	39,034,465 - 39,054,210 (-)	NCBI		Celera
Cytogenetic Map	17	q21.31	NCBI
HuRef	17	38,089,106 - 38,108,850 (-)	NCBI		HuRef
CHM1_1	17	42,561,259 - 42,581,020 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	45,101,499 - 45,121,240 (-)	NCBI		T2T-CHM13v2.0

Slc4a1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	102,239,646 - 102,256,107 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	102,239,650 - 102,257,029 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	102,348,820 - 102,365,281 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	102,348,824 - 102,366,203 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	102,210,134 - 102,226,595 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	102,164,917 - 102,181,205 (-)	NCBI		MGSCv36	mm8
Celera	11	114,058,195 - 114,074,658 (-)	NCBI		Celera
Cytogenetic Map	11	D	NCBI
cM Map	11	66.29	NCBI

Slc4a1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	10	87,306,865 - 87,323,132 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	87,306,872 - 87,323,117 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	92,337,653 - 92,353,898 (-)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	10	91,809,157 - 91,825,395 (-)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	10	87,202,487 - 87,218,725 (-)	NCBI	Rnor_WKY
Rnor_6.0	10	90,296,144 - 90,312,401 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	90,296,141 - 90,312,386 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	90,084,734 - 90,101,181 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	91,454,824 - 91,471,072 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	91,470,679 - 91,479,502 (-)	NCBI
Celera	10	86,018,849 - 86,032,669 (-)	NCBI		Celera
Cytogenetic Map	10	q32.1	NCBI

Slc4a1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955451	17,315,024 - 17,328,103 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	17,318,600 - 17,330,943 (-)	NCBI	ChiLan1.0	ChiLan1.0

SLC4A1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	17	13,302,796 - 13,317,312 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	13,302,796 - 13,317,312 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	17	13,131,851 - 13,150,872 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

SLC4A1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	19,142,884 - 19,159,449 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	19,146,480 - 19,157,915 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	18,535,326 - 18,546,756 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	19,836,393 - 19,852,954 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	19,839,985 - 19,851,420 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	18,693,717 - 18,705,143 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	18,877,006 - 18,888,427 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	19,021,401 - 19,032,836 (+)	NCBI		UU_Cfam_GSD_1.0

Slc4a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	18,460,919 - 18,477,383 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936541	718,577 - 729,876 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936541	718,577 - 727,420 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC4A1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	18,957,807 - 18,974,208 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	18,957,813 - 18,975,266 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	19,180,392 - 19,196,592 (-)	NCBI

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar